NHGRI-Related News

A listing of news releases from other National Institutes of Health (NIH) institutes and centers, academic and non-profit institutions, and scientists or scientific societies related to NHGRI-funded work.

2017

September 15, 2017: Meet Genetics & Public Policy Fellow Nikki MeadowsNewFrom the American Society of Human Genetics: Danielle (Nikki) Meadows, PhD, ASHG/NHGRI Genetics & Public Policy Fellow for 2017-18 began her first rotation at the National Human Genome Research Institute in August. ASHG sits down with her for an informal talk about her background and interest in science policy.

September 6, 2017: Jennifer Krupp, M.D. is First Recipient of the New NIH-ACMG Fellowship in Genomic Medicine Program ManagementNewFrom the American College of Medical Genomics: The National Institutes of Health (NIH) in partnership with the American College of Medical Genetics and Genomics (ACMG) has selected Jennifer Lynn Krupp, M.D. as the first recipient of the new NIH-ACMG Fellowship in Genomic Medicine Program Management. The goal of this fellowship is to increase the pool of physicians trained in managing research and implementation programs in genomic medicine (i.e., the use of genomic information as part of a patient's clinical care.) Dr. Krupp will begin one of her five three-month rotations at NHGRI.

August 18, 2017: IRDiRC Goals 2017-2027: New rare disease research goals for the next decadeFrom the International Rare Diseases Research Consortium (IRDiRC): IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years have seen considerable progress on these goals: the goal to deliver 200 new therapies was achieved in early 2017 - three years earlier than expected - and the goal for diagnostics is within reach. These accomplishments were celebrated at the 3rd IRDiRC Conference in Paris in February 2017. In light of this, IRDiRC initiated a year-long collaborative process to devise a new set of global rare disease goals for the upcoming decade. NHGRI program director Lu Wang, Ph.D., is a member of the IRDiRC, which has strict guidelines for achieving its goals for collaboration, data sharing and and the dessemination of research project information in rare diseases.

July 17, 2017: 2017 Coleman Research AwardeesFrom the National Institute of Minority Health and Health Disparities: NIMHD has announced the 2017 Coleman Research Award winners, among them NHGRI IRTA Postdoctoral Fellow Candace Middlebrooks, Ph.D. William G. Coleman Jr., a distinguished researcher at NIH for 40 years, died of cancer in 2014 at age 72. He became the first permanent African-American scientific director in the history of the NIH Intramural Research Program (IRP) when he was appointed to direct the National Institute on Minority Health and Health Disparities' (NIMHD's) intramural research program in January 2011. The William G. Coleman, Jr., Ph.D., Minority Health and Health Disparities Research Innovation Award is a competitive award program designed to support the development of innovative research ideas and concepts contributed by post-doctoral fellows, staff scientists and staff clinicians within the NIMHD Intramural Research Program, who have the potential for high impact in any area of minority health and health disparities research.

July 17, 2017: Recession ProofFrom Harvard Medical School : A new genomic analysis reveals how populations in South Asia - including people living in India, Pakistan, Bangladesh, Sri Lanka and Nepal - are particularly vulnerable to rare genetic diseases. Several diseases specific to South Asian populations had been identified in the past, but the genetic causes of the vast majority remained largely mysterious. The new multi-institutional study reveals that so-called founder events - in which a small number of ancestors give rise to many descendants - significantly contributed to high rates of population-specific, recessive diseases in the region. The findings were published July 17 in Nature Genetics. Funding for this research was provided in part by the National Human Genome Research Institute.

July 13, 2017: ASHG Honors John Mulvihill with Mentorship AwardFrom the American Society of Human Genetics : The American Society of Human Genetics (ASHG) has named John J. Mulvihill, MD, Children's Hospital Foundation-Kimberly V. Talley Chair in Genetics and Professor of Pediatrics in the College of Medicine at the University of Oklahoma Health Sciences Center (OUHSC), and Senior Consultant to the Division of Genomic Medicine in the National Human Genome Research Institute, part of the National Institutes of Health (NIH); as the recipient of its 2017 Mentorship Award.

July 12, 2017: Scientists replay movie encoded in DNAFrom the National Institute of Mental Health: For the first time, a primitive movie has been encoded in - and then played back from - DNA in living cells. Scientists funded by the National Institutes of Health say it is a major step toward a "molecular recorder" that may someday make it possible to get read-outs, for example, of the changing internal states of neurons as they develop. The research was reported July 12, in the journal Nature and was funded by NIH's National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, and the National Human Genome Research Institute.

June 26, 2017: Sequencing Healthy Patients Reveals That Many Carry Rare Genetic Disease RisksFrom Brigham and Women's Hospital and Harvard Medical School: Whole genome sequencing involves the analysis of all three billion pairs of letters in an individual's DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease. However, the use of genome sequencing in healthy individuals is controversial because no one fully understands how many patients carry variants that put them at risk for rare genetic conditions and how they, and their doctors, will respond to learning about these risks. In a new paper published June 26 in the Annals of Internal Medicine by investigators at Brigham and Women's Hospital and Harvard Medical School, along with collaborators at Baylor College of Medicine, report the results of the four-year, NIH-funded MedSeq Project, the first-ever randomized trial conducted to examine the impact of whole genome sequencing in healthy primary care patients. The MedSeq Project is one of the sites in the Clinical Sequencing Exploratory Research Consortium and was funded by the National Human Genome Research Institute, part of the National Institutes of Health.

June 26, 2017: The sexual dimorphism dilemmaFrom the European Bioinformatics Institute (EMBL-EBI): Researchers at the European Bioinformatics Institute (EMBL-EBI) and their collaborators in the International Mouse Phenotyping Consortium (IMPC) have fully characterised thousands of mouse genes for the first time. Published in Nature Genetics, the results offer hundreds of new disease models and reveal previously unknown gene functions. The 3,328 genes described in this publication by the IMPC represent approximately 15% of the mouse genome. NHGRI helps administer the Knockout Mouse Phenotyping project through the NIH Common Fund, which helped fund this study.

June 26, 2017: Mouse genes could help decipher human diseaseFrom the European Bioinformatics Institute (EMBL-EBI): The sex of animals has an effect on the results of biomedical research and should be considered in design of scientific studies, according to researchers from the Wellcome Trust Sanger Institute, the European Bioinformatics Institute (EMBL-EBI) and the International Mouse Phenotyping Consortium. This statement, published in Nature Communications, is based on the discovery that the differences between male and female mice have an effect that could significantly alter the interpretation of studies using animal models with only one gender (sex). NHGRI helps administer the Knockout Mouse Phenotyping project through the NIH Common Fund, which helped fund this study.

June 1, 2017: Genomics: At the Heart of 'All of Us'From the University of Connecticut:On June 5, a three-day conference exploring the issues that spring from the ethical, legal and social implications of genomic research kicks off at UConn Health and the Jackson Laboratory for Genomic Medicine located in Farmington, CT. The Genomics and Society: Expanding the ELSI Universe conference is funded by NHGRI through a grant to Columbia University Medical Center (CUMC). The prestigious keynote speaker of the international event is Stephanie Devaney, Ph.D., deputy director of the All of Us Research Program at the National Institutes of Health (NIH). In this Q & A article she discusses how the new frontier of precision medicine, fueled by genomics, is at the heart of all our future health and healthcare.

May 16, 2017: Using genomics to fight deadly parasitic diseaseFrom the University of New Mexico:An international team of researchers, led by University of New Mexico Associate Professor Coenraad Adema, is now one step closer to eliminating a deadly parasitic disease responsible for killing hundreds of thousands of people around the world every year. A research article published in Nature Communications, gives an in-depth look of the sequenced genome of Biomphalaria glabrata, a tropical Ram's Horn snail. Understanding the snail's genetic makeup is a critical component in being able to understand these interactions. The National Human Genome Research Institute of NIH supported for the sequencing effort.

May 1, 2017: CRISPR Epigenome Editing Hits the Big TimeFrom the NIH Common Fund:Common Fund Roadmap Epigenomics Program grantee Dr. Charles Gersbach, Associate Professor of Biomedical Engineering at Duke University, and collaborators, have developed a CRISPR-based epigenomic regulatory element screening (CERES) approach for improved high throughput screening of regulatory elements in their native context. By combining CRISPR with epigenome modifying proteins, they were able to carry our screens that both inactivated and activated genes via modifications "on top of" the genome. NHGRI helped fund the research through the Genomics of Gene Regulation program.

April 20, 2017: Johns Hopkins Center for Inherited Disease Research Receives $213 Million of New FundingFrom Johns Hopkins Medicine: The Johns Hopkins Center for Inherited Disease Research (CIDR) marked its 20-year history supporting large-scale scientific collaboration by securing funding to the center through 2023. CIDR successfully competed for a seven-year contract from the National Institutes of Health (NIH) providing up to $213 million in research funding. The renewal contract enables NIH-funded researchers to use CIDR's sequencing, high-throughput genotyping, analysis and informatics services for a wide array of studies exploring genetic contributions to human health and disease. CIDR is an NHGRI affiliated center.

April 19, 2017: RNA sequencing applied as a tool to solve patients' diagnostic mysteriesFrom the Broad Institute: Recent advances in large-scale clinical DNA sequencing have led to genetic diagnoses for many rare disease patients, but the diagnosis rate based on these approaches is still far from perfect. On average, clinicians are unable to provide a genetic diagnosis for over half of patients in the clinic. The lack of a clear genetic diagnosis can lead to profound uncertainty about patients' long-term prognoses, treatment options, and family planning decisions. In a new Science Translational Medicine study, a team led by researchers from the Broad Institute of MIT and Harvard and the National Institute of Neurological Disorders and Stroke adds RNA sequencing to the diagnostic toolkit to identify disease-causing mutations buried inside the genome. NHGRI helped fund the research.

April 12, 2017: Rare "knockout" gene mutations in humans help scientists determine gene functionFrom the Broad Institute: The Human Genome Project mapped nearly 20,000 genes; now, researchers have identified individuals with natural gene-disrupting mutations (so-called "human knockouts") and systematically studied the biological consequences. The project provides a framework for using naturally-occurring genetic variation to gain insight into the function of each gene in the human genome. NHGRI funded the sequencing for this research.

April 11, 2017: NIH researchers trace origin of blood-brain barrier 'sentry cells'From the Eunice Kennedy Shriver National Institute of Child Health and Human Development: National Institutes of Health researchers studying zebrafish have determined that a population of cells that protect the brain against diseases and harmful substances are not immune cells, as had previously been thought, but instead likely arise from the lining of the circulatory system. This basic science finding may have implications for understanding age-related decline in brain functioning and how HIV infects brain cells. The study, appearing online in eLife, was conducted by researchers at NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and National Human Genome Research Institute and the Japanese National Institute of Genetics.

March 31, 2017: Researchers Find New Genetic Links Underlying Progressively Blinding Eye DiseaseFrom UC San Diego: Writing in the March 30 online issue of Nature Communications, researchers at University of California San Diego School of Medicine, with colleagues at Case Western University, Duke University, the National Institutes of Health and elsewhere, have identified three novel genomic loci - distinct stretches of genetic material on chromosomes - linked to FECD, which often clusters in families and is roughly 39 percent heritable. NHGRI helped fund the research.

March 27, 2017: Pioneering stem cell gene therapy cures infants with bubble baby diseaseFrom UCLA: UCLA researchers have developed a stem cell gene therapy cure for babies born with adenosine deaminase-deficient severe combined immunodeficiency, a rare and life-threatening condition that can be fatal within the first year of life if left untreated. Patients in the study were treated at the NIH Clinical Center by former NHGRI Research Investigators Fabio Candoitti, Rob Sokolic, and current NHGRI R.N. Elizabeth Garabedian in the Office of the Clinical Director.

March 23, 2017: 'Bench to bedside to bench': Scientists call for closer basic-clinical collaborationsFrom The Jackson Laboratory: In the era of genome sequencing, it's time to update the old "bench-to-bedside" shorthand for how basic research discoveries inform clinical practice, researchers from The Jackson Laboratory (JAX), National Human Genome Research Institute (NHGRI) and institutions across the U.S. declare in a Leading Edge commentary in Cell. In April 2016, NHGRI convened a meeting of leading researchers from 26 institutions to explore ways to build better collaborations between basic scientists and clinical genomicists, in order to link genetic variants with disease causation. The Cell commentary outlines the group's recommendations, which include promoting data sharing and prioritizing clinically relevant genes for functional studies.

February 14, 2017: Diabetes in your DNA? Scientists zero in on the genetic signature of risk From the University of Michigan: Why do some people get type 2 diabetes, while others who live the same lifestyle never do? For decades, scientists have tried to solve this mystery-and have found more than 80 tiny DNA differences that seem to raise the risk of the disease in some people, or protect others from the damagingly high levels of blood sugar that are its hallmark. But no one "type 2 diabetes signature" has emerged from this search. Now, a team of scientists has reported a discovery that might explain how multiple genetic flaws can lead to the same disease. They've identified something that some of those diabetes-linked genetic defects have in common: they seem to change the way certain cells in the pancreas "read" their genes.The discovery could eventually help lead to more personalized treatments for diabetes. But for now, it's the first demonstration that many type 2 diabetes-linked DNA changes have to do with the same DNA-reading molecule. Called Regulatory Factor X, or RFX, it's a master regulator for a number of genes. The team reporting the findings in a new paper in the Proceedings of the National Academy of Sciences comes from the University of Michigan, National Institutes of Health, Jackson Laboratory for Genomic Medicine, University of North Carolina and University of Southern California. National Human Genome Research Institute researchers were part of the study team.

January 23, 2017: TCGA study identifies genomic features of cervical cancerFrom the National Cancer Institute: Investigators with The Cancer Genome Atlas (TCGA) Research Network have identified novel genomic and molecular characteristics of cervical cancer that will aid in the subclassification of the disease and may help target therapies that are most appropriate for each patient. The new study, a comprehensive analysis of the genomes of 178 primary cervical cancers, found that over 70 percent of the tumors had genomic alterations in either one or both of two important cell signaling pathways. The researchers also found, unexpectedly, that a subset of tumors did not show evidence of human papillomavirus (HPV) infection. The study included authors from the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health, and appeared January 23, 2017, in Nature.

January 6, 2017: Familial test helps detect genes that cause complex diseasesFrom Baylor College of Medicine: A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer's. The method is called the rare-variant generalized disequilibrium test (RV-GDT), and it incorporates rare, as opposed to common, genetic variants into the analysis. In families in which several members are affected by a genetic condition, RV-GDT proved more powerful than other family-based methods in detecting rare genetic variants causing the condition. The results appear in the American Journal of Human Genetics. This research was funded by the National Human Genome Research Institute.

2016

December 19, 2016: New Study Identifies Which Physical Features Are Best Indicators of Down Syndrome in Diverse PopulationsFrom Children's National Health System: Physical features vary in patients with Down syndrome across diverse populations, according to a large international study published in the January 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used an objective digital facial analysis technology developed by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children's National Health System to identify the most relevant facial features characteristic in Down syndrome in diverse populations from 12 countries. This NHGRI study is the first to compare and contrast Down syndrome across diverse populations.

December 13, 2016: DNANexus & TCGA: Reanalyzing the World's Largest Pan-Cancer Initiative DatasetFrom DNA Nexus: The Cancer Genome Atlas (TCGA), a joint effort between the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), was established in 2006 to create a detailed catalog of genetic mutations responsible for cancer using next-generation sequencing. Over the years, TCGA collaborators have generated over 2.5 petabytes of data collected from nearly 11,000 patients, describing 34 different tumor types (including 10 rare cancers) based on paired tumor and normal tissue sets. "In addition, mutation calling for TCGA samples was primarily done for individual tumor types, with projects using different mutation callers or different versions of the callers, meaning the data wasn't uniform," said Carolyn Hutter, PhD, Program Director, Division of Genomic Medicine at the NHGRI. "We now believe the best way to do analysis is to have a uniform set of calls generated by multiple mutation callers, with quality control and filtering, across multiple cancer types. That's why the TCGA team decided to go back and recall the over 10,000 exomes in TCGA and produce this multi-caller somatic mutation dataset."

December 7, 2016: Scientists can now better diagnose diseases with multiple genetic causesFrom Baylor College of Medicine: Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition. The researchers anticipate that improved clinical and genetic diagnoses could lead to patients receiving more effective treatments and families benefiting from needed counseling. The study, funded in part by the National Human Genome Research Institute, was published in the New England Journal of Medicine.

November 21, 2016: NIAID-Supported Scientists Sequence, Explore the Genome of the River Blindness ParasiteFrom National Institute of Allergy and Infectious Diseases:Scientists have sequenced the genome of the parasitic worm responsible for causing onchocerciasis-an eye and skin infection more commonly known as river blindness. Through their work, researchers have gained insight into the workings of the parasite and identified proteins that potentially could be targeted with existing drugs or provide areas for developing new treatments. The research, which is described in a pair of papers published this week in Nature Microbiology, was conducted in part by scientists employed or supported by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. Additional funding for one of the studies was provided in part by NIH's National Human Genome Research Institute.

November 15, 2016: Researchers develop novel system for cataloging cancer gene variantsFrom Baylor College of Medicine: The discovery of variations in genes in tumor samples has been critical to the understanding of how cancer develops and spreads, and how to effectively treat it. Now, a multi-institutional group of researchers from the National Human Genome Research Institute-supported Clinical Genome Resource, known as ClinGen, including researchers from Baylor College of Medicine and Texas Children's Hospital, have developed a standard way to catalog gene mutations in cancers in order to enhance the use of the information in research and clinical practice. The result is the minimal variant level data, or MVLD, a uniform cataloging system that presents a standard way for researchers everywhere to refer to relevant data and information about each variant found in cancer studies. A paper published online in describes the cataloging system.

November 15, 2016: Genomic approaches can provide answers to undiagnosed primary immunodeficiency diseasesFrom Baylor College of Medicine: An extensive international team of physician researchers published on a comprehensive and unbiased genomic study which has led to the identification of disease-causing gene variants in 40 percent of previously undiagnosed patients with primary immunodeficiency diseases (PIDDs). The study integrates genomics to clinical care and has led to changes in clinical diagnosis and management of PIDDS. The work was supported in part by the National Human Genome Research Institute.

November 15, 2016: Simple genetic test shows promise for better outcomes in heart stent patientsFrom the University of Florida Health: A quick, precise genetic test can significantly reduce the risk of cardiovascular events by helping to identify more effective medication for some heart patients, a group led by University of Florida Health researchers has found. The test identifies a genetic deficiency that affects the body's ability to activate clopidogrel, a common anti-clotting drug given after a coronary artery stent is inserted. The current research was organized through a collaborative genomic medicine network funded by the NIH through NHGRI and known as Implementing Genomics in Practice, or IGNITE.

November 9, 2016: Will Unanticipated Genetic Mutations Lead to Subsequent Disease?From Brigham and Women's Hospital: A study published Nov. 9 in the journal Science Translational Medicine is the first to show that mutations in certain cancer and cardiovascular genes put individuals at an increased risk for dominantly inherited, actionable conditions, regardless of family medical history. The study, carried out in two separate populations of African-Americans and European-Americans, finds that individuals carrying these mutations are at higher risk for developing one of these cancer or cardiac syndromes, respectively. The new work, led by Robert C. Green, M.D., MPH, of Brigham and Women's Hospital, Broad Institute and Harvard Medical School, has important implications for the use of genomic sequencing as a future clinical screening tool. The work was supported in part by the National Human Genome Research Institute.

November 3, 2016: New TSRI Study Suggests Ebola Can Adapt to Better Target Human CellsFrom The Scripps Research Institute: A new study co-led by scientists at The Scripps Research Institute (TSRI) suggests that Ebola virus gained a genetic mutation during the 2013-16 epidemic that appears to have helped it better target human cells. The research, published November 3, 2016 in the journal Cell, found that the version of Ebola virus carrying the mutation, called GP-A82V, emerged early in the epidemic before Ebola virus cases began increasing exponentially. Overall, the scientists estimate that the GP-A82V version of Ebola virus caused about 90 percent of infections in the recent outbreak. The study was supported in part by the National Human Genome Research Institute.

October 27, 2016: Mouse Tests Aim to Show How Genes and Environment Join Forces to Cause DiseaseFrom Johns Hopkins University: When researchers try to uncover the cause of disease, they commonly start with two questions: Did a quirk in the patient's genes open the door to illness? Did exposure to environmental factors play havoc with the patient's health? Very often, both troublemakers are at least partly to blame. To provide the most effective treatment, doctors need to know as much as possible about how these partners in sickness and poor health work together. Scientists from Johns Hopkins University and Texas A&M University have launched an ambitious new effort to gather such knowledge, with support from a $5.3 million National Institutes of Health grant. The team's goal is to learn at a fundamental level how genes and environmental factors interact to cause human disease. Two NIH units-the National Human Genome Research Institute and the National Institute of Environmental Health Sciences-will provide the funding over a five-year period.

October 17, 2016: NIH Scientists Uncover Genetic Explanation for Frustrating SyndromeFrom the National Institute of Allergy and Infections Diseases: Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems. Some people who experience these diverse symptoms have elevated levels of tryptase-a protein in the blood often associated with allergic reactions. Multiple copies of the alpha tryptase gene drive these tryptase elevations and may contribute to the symptoms, according to a new study led by investigators at the National Instiute of Allergy and Infectious Diseases (NIAID). The National Human Genome Research Institute also provided funding for this study.

October 13, 2016: 23andMe, NIH Work to Reduce Health Research Disparities Among African AmericansFrom 23andMe: 23andMe, Inc., the leading personal genetics company, today announced a new grant from the National Institutes of Health (NIH), for the creation of a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations. The $1.7 million grant, issued from the National Human Genome Research Institute, will go toward leveraging 23andMe's data on more than one million customers who have consented to participate in research, creating an African American sequencing panel to be used as a reference dataset for health research. The de-identified genetic data will be made available to other health researchers at institutions around the world.

October 6, 2016: Reactome announces annotation and release of 10,000th human proteinFrom the Ontario Institute for Cancer Research (OICR):. The European Bioinformatics Institute (EMBL-EBI), the New York University School of Medicine and the Ontario Institute for Cancer Research (OICR) today announced a major milestone in the Reactome project: the annotation and release of its 10,000th human protein, making it the most comprehensive open access pathway knowledgebase available to the scientific community. The Reactome project is supported by NHGRI under the Computational Genomics and Data Science Program.

September 22, 2016: Inflammatory Autoimmune Disease Research at Georgia Tech awarded $2.3 Million NIH GrantFrom Georgia Tech: The lab of Greg Gibson at the Georgia Institute of Technology has been awarded a grant of $2.3 million to study the subtle genetic underpinnings of autoimmune-related diseases by taking a computational approach. The National Institutes of Health made the award as part of an $11.1 million total investment in research funds slated for five institutions, including Georgia Tech. The researchers' work could increase understanding of the causes of diabetes, Crohn's disease, rheumatoid arthritis, forms of heart disease, and more afflictions where inflammation is at issue, and where there may be a connection to autoimmunity. Funding comes from the National Human Genome Research Institute's Non-Coding Variants Program and the National Cancer Institute.

September 22, 2016: Drug development: Through the barrier From Nature:A metabolic physician at the University of Cambridge, UK, obtains a cutting-edge treatment from the United States - glucocerebrosidase enzyme purified from a human placenta - and administered it to his patient by intravenous infusion. This was the first UK use of enzyme-replacement therapy to treat Gaucher's disease, and the result was dramatic. Within months, the patient was no longer dependent on either blood transfusions or the wheelchair. "He never looked back, and he's still alive today," Cox says. Without it, "he would have been dead from bleeding or some complication a long time ago. The advent of enzyme-replacement therapy in the early 1990s revolutionized the treatment of Gaucher's disease. It also led to a new era of drug therapies for other lysosomal storage disorders (LSDs), a group of around 50 genetic conditions that compromise the body's ability to break down specific molecules, which then build up to create severe health problems. Dr. Ellen Sidransky, senior investigator with NHGRI's Medical Genomics Branch and an expert in Gaucher disease, is consulted and comments on the research in this article from Nature.

September 22, 2016: Coriell Institute Wins NIH AwardFrom Coriell Institute: Coriell Institute for Medical Research has won a $4.25M grant from the National Human Genome Research Institute. The five-year award supports the NHGRI Sample Repository for Human Genetic Research, a powerful collection of high-quality cell lines and DNA housed at Coriell and distributed to the global research community. The NHGRI Sample Repository includes the samples used by the International HapMap and 1000 Genomes projects, which have made significant contributions to the scientific and medical fields. Samples are accessible through the Coriell Institute and have genotype and sequence data. Donors gave broad consent for use of the samples, therefore no identifying or phenotypic information is available.

September 15, 2016: Distinct neurological syndromes can be the result of variations in gene ATAD3AFrom Baylor College of Medicine: A team of scientists from a number of institutions around the world, including Baylor College of Medicine, discovered that rare neurological syndromes for which there was no cause can be the result of variations in the gene ATAD3A. The study, which appears in the September 15 issue of American Journal of Human Genetics, sheds light on the causes of these diseases and opens the possibility for developing better diagnostic tools and potential treatments in the future. The research was funded in part by the National Human Genome Research Institute.

September 14, 2016: Genes essential to life are enriched for human disease genes, large-scale mouse phenotyping study showsFrom The Jackson Laboratory: Roughly a third of all genes in the mammalian genome are essential for life. A new article in Nature, from an international, multi-institutional research team including The Jackson Laboratory (JAX), describes the large-scale discovery of those genes and how it will impact understanding of mammalian development and human disease. The research was funded in part by the National Human Genome Research Institute.

September 12, 2016: New Studies Double Number of Known Sites in Genome Linked to High Blood PressureFrom Johns Hopkins Medicine: Several large international groups of researchers report data that more than doubles the number of sites in the human genome tied to blood pressure regulation. In one of the studies, Johns Hopkins University scientists in collaboration with many other groups, found unexpected hints that biochemical signals controlling blood pressure may spring from within cells that line blood vessels themselves. Another surprising finding from the study was that many of the new sites identified were near genes that are active in cells that line the inside of blood vessels, suggesting those cells are somehow involved directly in blood pressure control. The study, wich appears in the Sept. 12 journal Nature Genetics, was funded in part by the by the National Human Genome Research Institute.

August 17, 2016: Largest collection of human exome sequence data yields unprecedented tool for diagnosing rare diseaseFrom Broad Institute: Based on the largest resource of its kind, members of the Exome Aggregation Consortium (ExAC) led by scientists at the Broad Institute of MIT and Harvard report scientific findings from data on the exome sequences (protein-coding portions of the genome) from 60,706 people from diverse ethnic backgrounds. Containing over 10 million DNA variants - many very rare and most identified for the first time - the ExAC dataset is a freely available, high-resolution catalog of human genetic variation that has already made a major impact on clinical research and diagnosis of rare genetic diseases. Featured in the August 18 issue of Nature, analysis of the data reveals properties of genetic variation undetectable in smaller data sets.? The study was funded in part by the National Human Genome Research Institute.

August 4, 2016: Researchers flag hundreds of new genes that could contribute to autismFrom Princeton University: Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers. In the first effort of its kind, the research team developed a machine-learning program that scoured the whole human genome to predict which genes may contribute to autism spectrum disorder (ASD). The results of the program's analyses - a rogue's gallery of 2,500 candidate genes - vastly expand on the 65 autism-risk genes currently known. Researchers have recently estimated that 400 to 1,000 genes underpin the complex neurodevelopmental disorder. The researchers have made their results available in the August 1st online edition of the journal Nature Neuroscience. The study was funded in part by the National Human Genome Research Institute.

August 1, 2016: Tapping crowd-sourced data unearths a trove of depression genesFrom the National Institute of Mental Health: Scientists have discovered 15 genome sites - the first ever - linked to depression in people of European ancestry. Many of these regions of depression-linked genetic variation turn out to be involved in regulating gene expression and the birth of new neurons in the developing brain. However, the researchers did not have to sequence anyone's genes! Instead, they analyzed data already shared by people who had purchased their own genetic profiles via an online service and elected to participate in its research option. This made it possible to leverage the statistical power of a huge sample size to detect weak genetic signals associated with a diagnosis likely traceable to multiple underlying illness processes. This novel use of crowd-sourced data was confirmed with results from traditional genetics approaches in the study, funded in part by the National Human Genome Research Institute.

July 22, 2016:Vaccine Strategy Induces Antibodies that Can Target Multiple Influenza VirusesFrom the National Institute of Allergy and Infectious Diseases: Scientists have identified three types of vaccine-induced antibodies that can neutralize diverse strains of influenza virus that infect humans. The discovery will help guide development of a universal influenza vaccine, according to investigators at the National Institute of Allergy and Infectious Diseases (NIAID), and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health (NIH), and collaborators who conducted the research. The findings appear in the July 21st online edition of Cell.

July 14, 2016: How Will Genomics Enter Day-to-day Medicine?From the Massachusetts Institute of Technology: Scientists are learning that the state of the microbiome can have an impact on human health, with the risk for everything from autoimmune disease to certain cancers being linked to the diversity and wellbeing of the trillions of microbes living in and on the body. In work published in this week's Nature, Eric Alm and Ilana Brito from MIT and the Broad Institute of MIT and Harvard and their colleagues took a deep look at the microbiomes in developing world populations to study how culture can influence their makeup. The research was funded in part by NHGRI.

July 5, 2016: How Will Genomics Enter Day-to-day Medicine?From Children's Hospital of Philadelphia: A quiet transformation has been brewing in medicine, as large-scale DNA results become increasingly available to patients and healthcare providers. Amid a cascade of data, physicians, counselors and families are sorting out how to better understand and use this information in making healthcare decisions. National experts who have gathered in Clinical Genetics Think Tank meetings at two large pediatric hospitals recently issued their first recommendations for integrating genomics into clinical practice. The recommendations appeared online May 12, 2016, in Genetics in Medicine. The research was supported, in part, by the National Human Genome Research Institute.

June 23, 2016: Human brain houses diverse populations of neurons, new research showsFrom University of California at San Diego: A team of researchers has developed the first scalable method to identify different subtypes of neurons in the human brain. The research lays the groundwork for "mapping" the gene activity in the human brain and could help provide a better understanding of brain functions and disorders, including Alzheimer's, Parkinson's, schizophrenia and depression. By isolating and analyzing the nuclei of individual human brain cells, researchers identified 16 neuronal subtypes in the cerebral cortex-the brain's outer layer of neural tissue responsible for cognitive functions including memory, attention and decision making. The team, led by researchers at the University of California San Diego, The Scripps Research Institute (TSRI) and Illumina, published their findings in the June 24 online issue of the journal Science. The study used single cell analysis technology originally developed with support from a Common Fund HMP Technology Development grant administered by NHGRI.

June 16, 2016: UMN study to establish legal framework for genomic medicineFrom University of Minnesota: The National Institutes of Health (NIH) has awarded the first-ever grant dedicated to laying the policy groundwork needed to translate genomic medicine into clinical application. The project - LawSeqSM - will convene legal, ethics and scientific experts from across the country to analyze what the state of genomic law is and create much-needed guidance on what it should be. NIH has declared the adoption of genomic medicine by clinicians to be a top priority to improve both individual and public health. The federal Precision Medicine Initiative (PMI), announced by President Obama and currently being launched, aims to use genomics and other analyses to accelerate development of more powerful and tailored treatments for cancer and other diseases. Yet U.S. federal and state genomics law is unclear and poorly understood, presenting a major obstacle to progress. NHGRI funds LawSeqSM.

June 14, 2016: Supercomputer changing genetic medicine in AfricaFrom University of Illinois at Urbana-Champaign: The National Center for Supercomputing Applications at the University of Illinois at Urbana-Champaign is helping change the way genetic medicine is researched and practiced in Africa. Members of the Blue Waters team recently made it possible to discover genomic variants in over 300 deeply sequenced human samples to help construct a genotyping chip specific for African populations. The research is part of the H3Africa project, funded in part by NHGRI.

June 13, 2016: Probing proteins' 3-D structures suggests existing drugs may work for many cancersFrom Washington University School of Medicine in St. Louis: Examining databases of proteins' 3-D shapes, scientists at Washington University School of Medicine in St. Louis have identified more than 850 DNA mutations that appear to be linked to cancer. The information may expand the number of cancer patients who can benefit from existing drugs. The study, published June 13 in Nature Genetics, detailed a list of the mutations and associated drugs that may work against them. The researchers included drugs already approved for use in patients by the Food and Drug Administration (FDA) as well as drugs being evaluated in clinical trials and in preclinical studies. The research was funded in part by NHGRI.

June 2, 2016: A massive approach to finding what's "real" in genome-wide association dataFrom Broad Institute: What could we learn if we probed the subtle effects of thousands of DNA variations on gene expression, all at once? Two recent NHGRI-funded studies, both of which were published in the journal Cell, hint at how an assay called the massively parallel reporter assay (MPRA) could help us get there. Genome-wide association studies (GWAS) have been a boon for geneticists by revealing thousands of genetic variants associated with human disease. At the same time, GWAS are the bane of geneticists because they reveal thousands of genetic variants associated with human disease.

May 26, 2016: Metagenomics Pathogen Detection Tool Could Change How Infectious Diseases Are DiagnosedFrom the University of Utah: Scientists at the University of Utah and their colleagues have developed a new software called Taxonomer that improves the accuracy and speed of detecting pathogens, which may help in diagnosing infectious diseases. In a report in the journal Genome Biology, the researchers showed Taxonomer could analyze the sequences of all nucleic acids in a clinical specimen (DNA and RNA) and detect disease-causing pathogens, as well as profile a patient's gene activity, in minutes.

May 20, 2016: OU Center Examines How Genomic Information Impacts Medical Care of Native American CommunitiesFrom the University of Oklahoma: A University of Oklahoma Center on American Indian and Alaska Native Genomic Research will examine the impact of genomic information on American Indian and Alaska Native communities and health care systems. The funding for this study - provided by NHGRI's Centers of Excellence in Ethical, Legal and Social Implications Research (CEER) program - will allow the OU research team will collaborate with the Cheyenne River Sioux tribe, the Chickasaw Nation and Southcentral Foundation in Anchorage, Alaska, to study knowledge and attitudes about genomics.

May 19, 2016: New center to study genomic privacy concernsFrom Vanderbilt: Researchers at Vanderbilt University School of Medicine have received a four-year, $4-million grant from the National Institutes of Health (NIH) to establish a new center for the study of privacy concerns associated with the use of genomic information, the NIH announced this week. The Vanderbilt Center for Genetic Privacy and Identity in Community Settings will examine the likelihood that lapses in protecting genomic information allow people to be identified, how people perceive such risks and how effective legal and policy efforts are in reducing them. NHGRI funds new CEER through the Ethical, Legal and Social Implications Research Program.

May 18, 2016: NIH Names Johns Hopkins Berman Institute a Center of Excellence For Bioethics Research on Genomics and Infectious DiseaseFrom Johns Hopkins: The National Human Genome Research Institute of the National Institutes of Health (NIH) has awarded the Johns Hopkins Berman Institute of Bioethics a "Center of Excellence" grant to study the ethical, legal and social implications (ELSI) of applying genomics to research on, and the prevention and treatment of, infectious disease. This builds on three years of work of an exploratory Center of Excellence in ELSI Research(CEER) at the Berman Institute, the first such project to focus attention on genomic ELSI issues in the context of infectious disease.

May 10, 2016: TSRI Team Streamlines Biomedical Research by Making Genetic Data Easier to SearchFrom Scripps Research Institute: A team of scientists at The Scripps Research Institute (TSRI) is expanding web services to make biomedical research more efficient. With their free, public projects, MyGene.info and MyVariant.info, researchers around the world have a faster way to spot new connections between genes and disease. Wu and TSRI Associate Professor Andrew Su co-led a new study published in the journal Genome Biology reporting on progress in setting up these services and the positive response from users so far. The research was funded in part by NHGRI through NIH's Big Data 2 Knowledge (BD2K) Initiative.

May 9, 2016: International Collaboration Leads to Clues About Rare CancerFrom the University of Michigan: Researchers from across the globe have joined together to improve understanding about one of the most rare - and lethal - types of cancer. Teams from 39 institutions in Europe, North America, South America and Australia collected and analyzed 91 samples of adrenocortical carcinoma. They performed a comprehensive genomic analysis as part of The Cancer Genome Atlas (TCGA) Research Network. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

May 6, 2016: Deciphering chromatin: Many marks, millions of histones at a timeFrom the Broad Institute: A new high-resolution technique for reading combinations of chemical flags in the epigenome could help uncover new rules underlying cell fate and provide important clues for understanding diseases like cancer. The research was partially supported by National Human Genome Research Institute.

April 28, 2016: UC San Diego bioengineers create first online search engine for functional genomics dataFrom University of California San Diego: University of California San Diego bioengineers have created what they believe to be the first online search engine for functional genomics data. This work from the Sheng Zhong bioengineering lab at UC San Diego was just published online by the journal Nucleic Acids Research. This new search engine, called GeNemo, addresses a pressing challenge: effectively searching functional genomic data from online data repositories. Funding for this work was provided in part by the National Human Genome Research Institute.

April 27, 2016: MicroRNA Pathway Could Lead to New Avenues for Leukemia TreatmentFrom University of Cincinnati: Cancer researchers at the University of Cincinnati have found a particular signaling route in microRNA (miR-22) that could lead to targets for acute myeloid leukemia, the most common type of fast-growing cancer of the blood and bone marrow.These findings are being published in the April 26 issue of the online journal Nature Communications. The research was funded in part by the Intramural Research Program of National Human Genome Research Institute.

April 7, 2016: Rare DNA will have nowhere to hideFrom Rice University: Rice University bioengineer David Zhang recognizes the difficulty of finding specific sequences of DNA in a tiny sample of blood that holds as many as 100 million billion nucleotides, the molecular units that, strung together, make up the genetic code. His ideas for improving the odds are great enough for the National Institutes of Health (NIH) to invest in them. He has been awarded a pair of prestigious NIH R01 grants - one of which is from the National Human Genome Research Institute - to develop novel therapeutic tools . The grant will allow his lab at Rice's BioScience Research Collaborative to develop probes that help next-generation sequencing (NGS) find and profile disease-causing DNA sequence variants by removing the vast majority of healthy sequences from view.

April 4, 2016: Single-gene mutations account for only 2 percent of cases of severely elevated cholesterolFrom Massachusetts General Hospital: A study from an international research team finds that familial hypercholesterolemia (FH) - a genetic condition that causes greatly elevated levels of low-density lipoprotein (LDL) cholesterol throughout life - accounts for less than two percent of severely elevated LDL in the general population. But the team also found that the risk of coronary artery disease is significantly higher in individuals with FH than in people with similarly elevated LDL levels who do not have these mutations. The report is receiving advance online publication in the Journal of the American College of Cardiology to coincide with a presentation at the American College of Cardiology's 65th Annual Scientific Session. The work was supported in part by the National Human Genome Research Institute.

March 25, 2016: Unique Repertoires of DNA Binding Activities [BWH Clinical & Research News Blog]From Brigham and Women's Hospital: Mitochondrial diseases - which affect 1 in 5,000 people - encompass a spectrum of disorders with an array of symptoms. Many patients with a mitochondrial disease experience neurological symptoms, including intellectual disability, childhood epilepsy and autism spectrum disorder, but why dysfunctional mitochondria - the powerhouses of cells -lead to these sorts of symptoms has been unclear.In a paper published on March 31 in Cell Reports, BWH investigators shed light on what may be the root cause of these neurological symptoms by tracing the development of interneurons. NHGRI helped fund the research.

March 7, 2016: Genes in spotted gar could boost biomedical use of zebrafishFrom University of Oregon: A primitive and slowly evolving fish, the spotted gar, is so much like zebrafish and humans that it can serve as a bridge species capable of leading to more powerful biomedical research on human diseases, say UO researchers. In a comprehensive, international research effort, led by the UO in collaboration with the Broad Institute at MIT and Harvard University, researchers sequenced the genome of the spotted gar - an ancient fish with hard, diamond-shaped scales and a long mouth filled with needle-like teeth. Their work is detailed in a paper published online by the journal Nature Genetics. The work was supported in part by the National Human Genome Research Institute.

March 1, 2016: Advisory committee to address framework for building medical information commonsFrom Baylor College of Medicine: Dr. Amy McGuire, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine, the Leon Jaworski Professor in Biomedical Ethics, and an expert in the ethics of genomic studies, was awarded a $2.2 million grant from the National Human Genome Research Institute to support the Building the Medical Information Commons: Participant Engagement and Policy project. The project seeks to develop an ethical and policy framework for building a medical information commons - a networked environment in which diverse sources of health, medical and genomic data on large populations become broadly available for research and clinical use.

February 29, 2016: Illuminating the broad spectrum of diseaseFrom the Broad Institute: In a paper published in Nature Biotechnology, researchers from the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute describe a new method that dramatically simplifies an arduous experimental process in early drug discovery. Their method, called PRISM, uses a molecular barcoding system to test potential drug compounds on cancer and other cell lines at an unprecedented scale and speed. The system allows for pooling and testing of multiple cell lines simultaneously, and promises to accelerate the search for targeted therapies by better representing the broad genetic diversity of disease. NHGRI helped fund the research.

February 11, 2016: Neanderthal DNA has subtle but significant impact on human traitsFrom Vanderbilt University: Since 2010 scientists have known that people of Eurasian origin have inherited anywhere from 1 to 4 percent of their DNA from Neanderthals. The discovery spawned a number of hypotheses about the effects these genetic variants may have on the physical characteristics or behavior of modern humans, ranging from skin color to heightened allergies to fat metabolism...generating dozens of colorful headlines including "What your Neanderthal DNA is doing for you" and "Neanderthals are to blame for our allergies" and "Did Europeans Get Fat From Neanderthals?" Now, the first study that directly compares Neanderthal DNA in the genomes of a significant population of adults of European ancestry with their clinical records confirms that this archaic genetic legacy has a subtle but significant impact on modern human biology. The work was supported in part by grants from the National Human Genome Research Institute.

February 4, 2016: Individuals' medical histories predicted by their noncoding genomesFrom Stanford University Medicine:Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems.Identifying mutations in the control switches of genes can be a surprisingly accurate way to predict a person's medical history. The work was supported in part by grants from the National Human Genome Research Institute.

January 29, 2016: Could Blood Pressure Drugs Have a Role in Alzheimer's Disease Treatment?From Georgetown University Medical Center: In laboratory neuronal cultures, an FDA-approved drug used to treat high blood pressure reduced cell damage often linked to Alzheimer's disease, say researchers at Georgetown University Medical Center (GUMC) and the National Institutes of Health. Published online in the Feb. 28 issue of the journal Alzheimer's Research and Therapy, the researchers say their work provides information supporting the potential effect of the drug candesartan - as well as other Angiotensin receptor blockers for the early treatment of Alzheimer's disease. The work was supported by grants from the National Institutes of Health including the National Human Genome Research Institute and the National Institute of Mental Health.

January 28, 2016: Broad genetic testing for childhood cancer patients can pinpoint cancer causes and identify potential treatmentsFrom Baylor College of Medicine: In a study led by researchers from Baylor College of Medicine and Texas Children's Cancer Center, combined whole exome tumor and blood sequencing in pediatric cancer patients revealed unexpected findings, including mutations in genes not previously associated with the specific type of cancer that had been diagnosed, pointing toward the usefulness of broad-based testing of both tumor and blood samples for children diagnosed with solid tumors. The study, which appears in the current issue of JAMA Oncology, is part of the ongoing Baylor College of Medicine Advancing Sequencing in Childhood Cancer Care (BASIC3) project funded through a $6.6 million grant from the National Human Genome Research Institute and the National Cancer Institute.

January 27, 2016: Schizophrenia's strongest known genetic risk deconstructedFrom the National Institute of Mental Health: Versions of a gene linked to schizophrenia may trigger runaway pruning of the teenage brain's still-maturing communications infrastructure, NIH-funded researchers have discovered. People with the illness show fewer such connections between neurons, or synapses. The gene switched on more in people with the suspect versions, who faced a higher risk of developing the disorder, characterized by hallucinations, delusions and impaired thinking and emotions. This research was funded in part by a grant from the National Human Genome Research Institute.

January 5, 2016: Vanderbilt study raises questions about reporting incidental genetic findingsFrom Vanderbilt University: A genetic test that suggests a patient may be at increased risk for potentially fatal heart rhythms is very often not as ominous as it sounds. That's the take-home message from a study in the current Journal of the American Medical Association led by researchers at Vanderbilt University Medical Center. The study of 2,022 patients identified 63 who had genetic variations considered to be "potentially pathogenic" - capable of producing arrhythmias. Yet their electrocardiograms (ECGs) were no different from those who did not carry the "disease genes."
The research was funded in part through the federally funded Electronic Medical Records and Genomics (eMERGE) network, which was initiated and funded with National Human Genome Research Institute (NHGRI) grants. NHGRI program staff participated with eMERGE investigators in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication and are accordingly included as authors.

2015

December 23, 2015: Genome misfolding unearthed as new path to cancerFrom Broad Institute: In a landmark study, researchers from the Broad Institute and Massachusetts General Hospital reveal a completely new biological mechanism that underlies cancer. By studying brain tumors that carry mutations in the isocitrate dehydrogenase (IDH) genes, the team uncovered some unusual changes in the instructions for how the genome folds up on itself. The findings, which point to a general process that likely also drives other forms of cancer, appear in the December 23rd advance online issue of the journal Nature. The study combed through vast amounts of data from recent cancer genome projects, including The Cancer Genome Atlas (TCGA). The research was partly funded by an NHGRI ENCODE Project grant.

December 21, 2015: International Study Reveals New Genetic Clues to Age-Related Macular Degeneration (AMD)From the National Eye Institute: The International AMD Genomics Consortium has collected and analyzed genetic data from over 43,000 people to systematically identify common and rare variations in genetic coding - called variants -associated with AMD, a leading cause of vision loss among people age 50 and older. The findings may help improve our understanding of the biological processes that lead to AMD and identify new therapeutic targets for potential drug development. The study was funded in part by grants from the National Human Genome Research Institute.

December 14, 2015: Stunning diversity of gut bacteria uncovered by new approach to gene sequencing devised at StanfordFrom Stanford University: A collaboration between computer scientists and geneticists at Stanford University has produced a novel technique for mapping the diversity of bacteria living in the human gut. The new approach revealed a far more diverse community than the researchers had anticipated. "The bacteria are genetically much more heterogeneous than we thought," said Michael Snyder, Ph.D., professor and chair of genetics.Any two humans typically differ by about 1 in 1,000 DNA bases, whereas bacteria of the same species may differ by as many as 250 in 1,000, Snyder said. "I don't think people realized just how much diversity there was. The complexity we found was astounding," he said. A paper describing their work was published in the online Dec. 14 issue of Nature Biotechnology. The study was funded in part by NHGRI.

December 14, 2015: Study uncovers hard-to-detect cancer mutationsFrom Washington University in St. Louis: New research shows that current approaches to genome analysis systematically miss detecting a certain type of complex mutation in cancer patients' tumors. Further, a significant percentage of these complex mutations are found in well-known cancer genes that could be targeted by existing drugs, potentially expanding the number of cancer patients who may benefit. The study, from Washington University School of Medicine in St. Louis, appears Dec. 14 in the journal Nature Medicine. The research was supported in part by the National Human Genome Research Institute.

November 17, 2015: Drug may delay, prevent blindness for millionsFrom the Marshfield Clinic: A drug already used safely to treat Parkinson's disease, restless leg syndrome and other movement disorders also could delay or prevent the most common cause of blindness affecting more than 9 million older Americans - age-related macular degeneration (AMD). Researchers have discovered that patients who take the drug L-DOPA are significantly less likely to develop AMD, and if they do get AMD it's at a significantly older age, according to study published online Nov. 4 in the American Journal of Medicine?. The study, Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration, was supported in part by the National Human Genome Research Institute.

November 10, 2015: Genome of Sézary syndrome points to potential treatment targetsFrom Baylor College of Medicine: A genomic analysis of 37 patients with Sézary syndrome, a rare form of T-cell lymphoma that affects the skin and causes large numbers of atypical T-lymphocytes (an immune system disease) to circulate, reveals mutations in genes that affect T-cell signaling and those that interfere with cell cycle checkpoints that govern cell division, said researchers from Baylor College of Medicine and The University of Texas MD Anderson Cancer Center in a report in the journal Nature Genetics. Funding for this work came, in part, from National Human Genome Research Institute (Grant 5U54HG003273).

November 9, 2015: GQT: Making the Most of Genomic Big DataFrom the USTAR Center for Genetic Discovery Blog: UCGD investigator Aaron Quinlan and his team have released GQT, a software tool for exploring and querying large data sets of thousands to millions of genomes. Since the first human genome was completed in 2003, sequenced genomes have accumulated at an exponential rate with scientists finishing 1,000 genomes by 2013 and 60,000 in 2015, a mere two years later. This astonishing growth in genome sequencing is predicted to continue. Over a million new human genome sequences are expected to arrive on the virtual desks of researchers by 2020. This massive data influx presents a big data challenge for genomics researchers. Computational tools that were designed to study genetic variation in one or a few genomes fall short when applied to cohorts of hundreds, thousands, and potentially millions of individuals. This work was published in the journal Nature Methods on November 9, 2015 and is supported by the National Human Genome Research Institute (NHGRI).

November 4, 2015: Analysis of genetic neurologic diseases identify genes that affect brain structure, functionNewFrom Baylor College of Medicine: In a study that appears in the journal Neuron, researchers led by those at Baylor College of Medicine and a large swath of Turkish medical professionals evaluated the genetics behind such brain disorders and malformations. They found variants of genes known to cause such problems and new mutations in genes not known to be involved before. Along with that, they identified structural deviations such as the duplications or deletions known as copy number variations in different chromosomes. The study was was supported in part by the National Human Genome Research Institute.

November 4, 2015: Kidney cancer's genomic drivers revealedNewFrom the Oregon Health and Science University: A massive search involving cancer researchers across the U.S. and Canada has revealed many of the altered genes and cell signaling pathways that drive a poorly understood form of kidney cancer, primary papillary renal cell carcinoma.The findings, published today in the New England Journal of Medicine, should help physicians better understand the clinical risks for people with papillary kidney tumors, which account for 15 percent of kidney cancer cases. The insights also point the way to new ideas for more effective therapies.

October 29, 2015: NIH researchers link single gene variation to obesityNewFrom Eunice Kennedy Shriver National Institute of Child Health and Human Development: According to a new study funded by the National Institutes of Health and published in the journal Cell Reports, a single variation in the gene for brain-derived neurotropic factor (BDNF) may influence obesity in children and adults. The study suggests that a less common version of the BDNF gene may predispose people to obesity by producing lower levels of BDNF protein, a regulator of appetite, in the brain. The authors propose that boosting BDNF protein levels may offer a therapeutic strategy for people with the genetic variation, which tends to occur more frequently in African Americans and Hispanics, than in non-Hispanic Caucasians. The study was funded in part by NHGRI.

October 27, 2015: A Newly-Discovered Tumor Suppressor Gene Affects Melanoma SurvivalNewFrom Weizmann Institute of Science: In research that appeard in the October 26 issue of Nature Genetics a team from the Weizmann Institute of Science has revealed one of the drivers of a particularly deadly subset of melanomas - one that is still seeing a rise in new cases. This gene is a newly identified member of a group of genes called tumor suppressor genes. It is mutated in some 5.4% of melanomas. its expression was found to be lost in over 30% of human melanomas; and this loss, according to the finding, was associated with reduced patient survival. This discovery might open new doors to understanding how this cancer grows and spreads, and it may lead in the future to new directions in treating this disease. NHGRI scientists contributed to the research.

October 13, 2015: Genomic analysis paves way for personalized treatment of invasive lobular carcinomaFrom the Autism Science Foundation (ASF): The ASF announced the launch of the Autism Sisters Project, a new initiative that will give unaffected sisters of individuals with autism the opportunity to take an active role in accelerating research into the "Female Protective Effect". The goal is to build a large genetic database that researchers can use to explore this phenomenon and discover how the protective factor can be harnessed to help people with autism of both sexes. The ASC is supported by a cooperative agreement grant to four lead sites funded by the National Institute of Mental Health (NIMH), with additional support from the National Human Genome Research Institute (NHGRI).

October 8, 2015: Genomic analysis paves way for personalized treatment of invasive lobular carcinomaFrom the UNC Lineberger Comprehensive Cancer Center: UNC Lineberger Comprehensive Cancer Center researchers helped lead an effort by The Cancer Genome Atlas Network of researchers to map the genetic drivers of invasive lobular carcinoma, the second most commonly diagnosed invasive form of breast cancer. They found that this cancer type may be at least three different diseases that differ in their microenvironmental features and outcomes. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute, both of the National Institutes of Health.

September 29, 2015: New Hope for Undiagnosed, Critically Ill Newborns at Rady Children'sFrom Rady Children's Hospital, San Diego: In his first week in office, newly recruited president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute (RPGSMI), Stephen Kingsmore, M.D., D.Sc., will participate in a major announcement. Today in Genome Medicine, Dr. Kingsmore and a team of researchers report whole-genome sequencing for diagnosis in critically ill babies in 26 hours. Prior to this, the fastest genome-based diagnosis was 50 hours, a mark set in 2012. Cutting diagnosis time in half adds precious hours for critically ill infants with unknown conditions whose bodies are rapidly failing. The work was funded by a $6 million grant from the National Human Genome Research Institute.

September 29, 2015: Children's Mercy Researchers Achieve 26-Hour Rapid Whole-Genome Sequencing In Critically Ill InfantsFrom Children's Mercy, Kansas City: A study published today in Genome Medicine describes how researchers at Children's Mercy Kansas City cut in half the time needed for rapid whole-genome sequencing and genetic diagnosis in critically-ill infants, called STAT-Seq. Through a variety of enhancements, the Center for Pediatric Genomic Medicine at Children's Mercy completed the STAT-Seq test in 26 hours compared to 50 hours, improving on a turnaround time that was already the fastest available in the world. Children's Mercy is one of four pilot projects to explore newborn genomics through funding by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health.

September 28, 2015: A new single-molecule tool to observe enzymes at workFrom University of Washington: A team of scientists at the University of Washington and the biotechnology company Illumina have created an innovative tool to directly detect the delicate, single-molecule interactions between DNA and enzymatic proteins. Their approach provides a new platform to view and record these nanoscale interactions in real time. As they report Sept. 28 in Nature Biotechnology, this tool should provide fast and reliable characterization of the different mechanisms cellular proteins use to bind to DNA strands - information that could shed new light on the atomic-scale interactions within our cells and help design new drug therapies against pathogens by targeting enzymes that interact with DNA. This discovery was made in the process of designing a nanopore system with which to sequence DNA, and the new capability can in turn be used to further improve the enzymes used in that DNA sequencing system. The research was funded by the Revolutionary Sequencing Technology Development Program - $1,000 Genome - administered by the National Human Genome Research Institute.

September 21, 2015: Consortium Awarded $12.4 Million to Study Genetic Heart ConditionFrom The Ohio State University: The Dilated Cardiomyopathy Consortium, led by Dr. Ray Hershberger at The Ohio State University Wexner Medical Center, has been awarded $12.4 million in grant funding by the National Heart Lung Blood Institute (NHLBI) and the National Human Genome Research Institute (NHGRI). The Consortium, composed of researchers at 11 clinical sites, will study the genetic basis of dilated cardiomyopathy (DCM) over the next five years. The study is called 'Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry. DCM is a condition in which the heart muscle weakens and the left ventricle enlarges. It is the most common cause for patients needing a heart transplant and it is responsible for about one in three cases of heart failure.

September 4, 2015: Genetic landscape can impact treatment for children with rare, aggressive cancerFrom Geisinger Health System:Two Geisinger researchers, leading a large team of investigators, have been awarded more than $3.5 million as part of a national effort to better understand the genetic basis of disease and to tailor medical care to people based on their genetic makeup. Marc S. Williams, M.D., director of the Genomic Medicine Institute, and Marylyn D. Ritchie, Ph.D., director of biomedical and translational informatics, will spend the next four years combining DNA sequence information and health information in thousands of patients' electronic medical records to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. They will examine and test approaches to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how family members communicate with one another. They also will look at the impact of the environment on chronic rhinosinusitis. The award from the National Institutes of Health was announced this week and is part of the Electronic Medical Records and Genomics (eMERGE) network administered by the National Human Genome Research Institute (NHGRI).

September 1, 2015: Genetic landscape can impact treatment for children with rare, aggressive cancerFrom University of Michigan Health System: For children with rare, aggressive and advanced cancer, precision medicine may help doctors determine their best treatment options, a new study finds. Using information from a patient's entire genome helped suggest personalized treatment options for nearly half of children with cancer, and led to specific treatment changes in a quarter of these patients, according to researchers at the University of Michigan Comprehensive Cancer Center and C.S. Mott Children's Hospital. The study includes sequencing the tumor's DNA and RNA as well as normal DNA from children and young adults with cancer that has relapsed or that is rare. Results from the first 102 patients enrolled are published in the September 1 issue of Journal of the American Medical Association. Funding for this study was provided in part by the National Institutes of Health Clinical Sequencing Exploratory Research (CSER) Consortium.

August 7, 2015:Scientists adopt new strategy to find Huntington's disease therapiesFrom the National Institute of Neurological Disorders and Stroke:Scientists searched the chromosomes of more than 4,000 Huntington's disease patients and found that DNA repair genes may determine when the neurological symptoms begin. The results may provide a guide for discovering new treatments for Huntington's disease and a roadmap for studying other neurological disorders. For this study, scientists employed a novel application of Genome-Wide Association Study analysis, a technique that scientists typically use to search for single letter changes to the DNA code on patients' chromosomes, which may increase or decrease their chances of having the disease. This work was supported in part by grants from the National Human Genome Research Institute.

August 3, 2015: Researchers awarded $14 million for two precision health projectsFrom Stanford School of Medicine:The National Institutes of Health has awarded the Stanford School of Medicine $14 million in funding for two projects that will advance the practice of precision health. The first grant is four-year, $10 million grant from the National Institute of General Medical Sciences (NIGMS) to expand their Pharmacogenomics Knowledgebase (PharmGKB). The second grant is a three-year, $4 million grant from the NIGMS and the National Human Genome Research Institute for the Clinical Pharmacogenetics Implementation Consortium (CPIC), which publishes clinical guidelines that teach healthcare providers how to use information about their patients' genetics to guide and optimize drug prescriptions.

July 23, 2015: Study: Glioma Tumor's Genetic Profile More Telling Than Physical AppearanceFrom University of Cincinnati: In a study published the June 10 issue of New England Journal of Medicine, researchers from the researchers from the Brain Tumor Center at the University of Cincinnati (UC) Neuroscience Institute and the UC Cancer Institute discovered that some glioma tumors that appeared to be "lower grade" contained a genetic characteristic that caused them to behave like the most aggressive, high-grade gliomas, also known as glioblastoma multiforme. The study was recently published by the The Cancer Genome Atlas (TCGA) network. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

July 22, 2015: Media Availability:Researchers Identify Promising Therapy for Rare Immune DisorderFrom the National Institute of Allergy and Infectious Diseases: Researchers from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and the Cincinnati Children's Hospital Medical Center report on a promising therapy for people with LRBA deficiency, a rare immune disorder that lacks effective treatments and is caused by mutations in the LRBA gene. The researchers found that the drug abatacept, which is FDA-approved for treating rheumatoid arthritis, may be an effective long-term therapy for LRBA deficiency. Furthermore, the team has discovered that LRBA protein plays a role in limiting the activity of immune cells. This work was supported in part by grants from National Human Genome Research Institute.

June 18, 2015: Genomic discovery of skin cancer subtypes provides potential 'signpost' for drug targetsFrom MD Anderson Anderson Cancer Center:As part of The Cancer Genome Atlas (TCGA), researchers from the University of Texas MD Anderson Cancer Center identified four melanoma subtypes: BRAF, RAS, NF1 and Triple-WT, which were defined by presence or absence of mutations from analysis of samples obtained from 331 patients. The five-year study resulted from an international collaboration of over 300 researchers from more than five countries, including Australia, Germany and Canada. Results from the study were published in the June 18 issue of Cell. The TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

June 15, 2015: Vulnerabilities in Genome's 'Dimmer Switches' Should Shed Light on Hundreds of Complex DiseasesFrom Johns Hopkins Medicine:Up to one-fifth of human DNA act as dimmer switches for nearby genes, but scientists have long been unable to identify precisely which mutations in these genetic control regions really matter in causing common diseases. Now, a decade of work at Johns Hopkins has yielded a computer formula that predicts with far more accuracy than current methods which mutations are likely to have the largest effect on the activity of the dimmer switches, suggesting new targets for diagnosis and treatment of many diseases. A summary of the research will be published online June 15 in the journal Nature Genetics. This work was supported in part by grants from National Human Genome Research Institute.

June 11, 2015:Reclassifying brain tumors with precisionFrom Emory University: A ground-breaking study that is part of The Cancer Genome Atlas (TCGA) Research Network will change the way patients with diffuse gliomas, a form of brain tumor, will be diagnosed and treated in the future. More than 300 researchers from 44 institutions contributed to a molecular analysis of the tumors. They found that molecular diagnostics are much more precise and reproducible than looking at tissue under a microscope for classification. This is a major step in starting to classify and treat brain tumors based on their genetic makeup rather than their microscopic appearance, which has been the traditional diagnostic approach for over 100 years. The findings are published on line in the New England Journal of Medicine. TCGA was launched by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) in 2006.

June 8, 2015:Stanford researchers suss out cancer mutations in genome's dark spotsFrom Stanford University:Geneticist Michael Snyder, Ph.D., and postdoctoral scholar Collin Melton, Ph.D., recently combined information from The Cancer Genome Atlas, a national effort to sequence and identify mutations in the genomes of many different types of cancers, with data from the national ENCODE Project, which serves as an encyclopedia of DNA functional regions, or elements. Their aim was to better understand the roles that mutations in regulatory regions may play in cancer development. Snyder and Melton found that fewer than one of every thousand mutations in each cancer type occurs in the coding region of a gene. In contrast, more than 30 percent of the mutations occur in regulatory regions. The study was published this morning in Nature Genetics. Both ENCODE and The Cancer Genome Atlas are research programs from NHGRI.

May 29, 2015: Single-cell analysis hits its strideFrom the Broad Institute: The Human Genome Project gave us an incredible foundation from which to understand our potential genetic repertoire. In order to understand the actual roles of particular genes in disease, however, it is not only critical to identify genes, but also to know in which cells the genes are expressed and when. The research was funded in part by NHGRI.

May 29, 2015:New platforms genetically barcode tens of thousands of cells at a timeFrom Harvard University: New platforms genetically barcode tens of thousands of cells at a time
John Franklin Enders University professor Matt Kirschner and Steven McCarroll, assistant professor of genetics at HMS, reported this week in separate papers that their labs have developed high-throughput techniques to quickly, easily and inexpensively give every cell in a sample a unique genetic barcode before it goes into the blender. The research was funded in part by NHGRI.

May 27, 2015: Congressional Action Needed to Optimize Regulation of Genomic TestsFrom University of Houston Law:The latest generation of genomic testing offers a chance for significant improvements in patient care, disease prevention and, possibly, even the cost-effectiveness of healthcare. However, Congress needs to act to incentivize the development of the massive data systems that doctors and regulators will need to make these tests safe and effective for patients, according to researchers. The Special Report by Barbara J. Evans, Ph.D., J.D. of the University of Houston Law Center, and Wylie Burke, M.D., Ph.D. and Gail P. Jarvik, M.D., Ph.D, both of the University of Washington School of Medicine, appears ahead of print in the May 27 online edition of the New England Journal of Medicine, the leading U.S. journal of original medical research and commentary.

May 13, 2015: Genome: Unlocking Life's Code Opens May 15 at the St. Louis Science CenterFrom the St. Louis Science Center: The first state-of-the-art exhibition about genomic science, Genome: Unlocking Life's Code opens May 15, 2015 at the Saint Louis Science Center. The exhibition is the result of a unique partnership of the Smithsonian Institution, NHGRI and the National Institutes of Health.

April 27, 2015: Study Demonstrates Potential of Rapid Whole-Genome Sequencing in Critically Ill InfantsFrom Children's Mercy Hospital, Kansas City: A study published in The Lancet Respiratory Medicine and presented at the annual Pediatric Academic Societies Meeting reveals the early results of the clinical usefulness of rapid whole-genome sequencing in neonatal and pediatric intensive care units (NICUs and PICUs). Children's Mercy Kansas City's STAT-Seq test helped diagnose a genetic disease in more than one half of 35 critically ill infants tested, compared to just nine percent with standard genetic tests. As a result of receiving a specific disease diagnosis, clinical care was refined in 62 percent of infants, including 19 percent who had a markedly favorable change in treatment, and palliative care was initiated in 33 percent. The results underscore the importance of the larger pilot project to explore newborn genomics, partially funded by the National Human Genome Research Institute (NHGRI).

April 15, 2015: Mathematical Technique Reveals DNA Patterns That Increase Accuracy of Ovarian Cancer PrognosisFrom the University of Utah: Nearly anyone touched by ovarian cancer will tell you: it's devastating. It's bad enough that cancer in almost 80 percent of patients reaches advanced stages before diagnosis, and that most patients are expected to die within five years. But just as painfully, roughly one quarter of women diagnosed have no warning that they are resistant to platinum-based chemotherapy, the main line of defense, nor that they will likely have 18 months to live. Now, University of Utah scientists have uncovered patterns of DNA anomalies that predict a woman's outcome significantly better than tumor stage. Published in the journal PLOS ONE, the patterns were discovered by using a new mathematical technique in the analysis of DNA profiles from the Cancer Genome Atlas, a national database containing data from hundreds of ovarian cancer patients.

March 9, 2015:The Cancer Genome Atlas (TCGA): The next stageFrom The Cancer Genome Atlas: The Cancer Genome Atlas (TCGA), the NIH research program that has helped set the standards for characterizing the genomic underpinnings of dozens of cancers on a large scale, is moving to its next phase. TCGA was launched by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) in 2006 as a pilot project to comprehensively characterize the genomic and molecular features of ovarian cancer and glioblastoma multiforme. The program grew to include samples from 11,000 patients across 33 tumor types and represents the largest tumor collection ever to be analyzed for key genomic and molecular characteristics.

March 6, 2015:Unregulated web marketing of genetic tests for personalized cancer care raises concerns in new studyFrom the Dana-Farber Cancer Institute: Websites that market personalized cancer care services often overemphasize their purported benefits and downplay their limitations, and many sites offer genetic tests whose value for guiding cancer treatment has not been shown to be clinically useful, according to a new study from Dana-Farber Cancer Institute. Internet marketing of cancer-related gene tests is unregulated. Therefore, there is wide variation in how these services are presented - posing a challenge for consumers and their physicians, the researchers reported in the March 5, 2015 issue of the Journal of the National Cancer Institute. NHGRI's genetic testing fact sheet was cited by the consumer health website HealthDay as a good resource for information on genetic testing.

March 4, 2015:Genetically speaking, mammals are more like their fathersFrom UNC at Chapel Hill: You might resemble or act more like your mother, but a novel research study from UNC School of Medicine researchers reveals that mammals are genetically more like their dads. Specifically, the research shows that although we inherit equal amounts of genetic mutations from our parents - the mutations that make us who we are instead of some other person - we actually "use" more of the DNA that we inherit from our dads. The National Human Genome Research Institute and the National Institute of Mental Health funded the creation of the UNC Center for Integrated Systems Genetics (CISGen), which contributed to the development and funding of proof of principle experiments for the Collaborative Cross to find genetic and environmental factors important in psychiatry.

February 18, 2015:Predicting Cancers' Cell of OriginFrom Brigham and Women's Hospital: A study led by researchers from Brigham and Women's Hospital suggests a new way to trace cancer back to its cell type of origin. By leveraging the epigenome maps produced by the Roadmap Epigenomics Program - a resource of data collected from over 100 cell types - the research team found that the unique genetic landscape of a particular tumor could be used to predict that tumor's cell type of origin. The study, which appears this week in Nature, provides new insights into the early events that shape a cancer, and could have important implications for the many cancer patients for whom the originating site of the cancer is unknown. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.

February 18, 2015:New Insights into 3D Genome Organization and Genetic VariabilityFrom the University of California San Diego:While genomics is the study of all of the genes in a cell or organism, epigenomics is the study of all the genomic add-ons and changes that influence gene expression but aren't encoded in the DNA sequence. A variety of new epigenomic information is now available in a collection of studies published Feb. 19 in Nature by the National Institutes of Health (NIH) Roadmap Epigenomics Program. This information provides a valuable baseline for future studies of the epigenome's role in human development and disease. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.

February 18, 2015:NIH-supported researchers map epigenome of more than 100 tissue and cell typesFrom the National Institutes of Health:Much like mapping the human genome laid the foundations for understanding the genetic basis of human health, new maps of the human epigenome may further unravel the complex links between DNA and disease. The epigenome is part of the machinery that helps direct how genes are turned off and on in different types of cells.Researchers supported by the National Institutes of Health Common Fund's Roadmap Epigenomics Program have mapped the epigenomes of more than 100 types of cells and tissues, providing new insight into which parts of the genome are used to make a particular type of cell. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.

February 17, 2015:DNA Sequencer the size of a mobile phoneFrom the University of California Santa Cruz: Investigators at the UC Santa Cruz Genomics Institute have optimized performance of a mobile-phone-sized MinIONTM DNA sequencer, marketed by Oxford Nanopore. Their work was reported in Nature Methods on February 16, 2015.The MinION device reads individual DNA strands base-by-base as they pass through a nanoscale pore (nanopore) under control of an applied voltage. This process is facilitated by an enzyme bound to the DNA. The study was supported by National Human Genome Research Institute (NHGRI).

February 13, 2015:Largest ever genome-wide study on body fat and BMI strengthen genetic links to obesityFrom the University of North Carolina School of Medicine: There are many reasons why two people with the same diets and exercise regimens can gain different amounts of weight and why fat becomes stored in different parts of their bodies. Now, an international collaboration of scientists, including several from the UNC School of Medicine and the UNC Gillings School of Global Public Health, has helped researchers home in on genetic reasons. Their findings were published in companion papers - genome-wide association studies - in the journal Nature.

January 29, 2015: Neutron Beams Reveal How Two Potential Pieces of Parkinson's Puzzle FitFrom NIST Center for Neutron Research: A team including scientists from the National Institute of Standards and Technology (NIST), NHGRI's Dr. Ellen Sidransky, have determined how two potentially key pieces of the Parkinson's puzzle fit together, in an effort to reveal how the still poorly understood illness develops and affects its victims.

January 28, 2015: Evolution of marine mammals to water life converges in some genesFrom Baylor College of Medicine: When marine mammals such as whales, dolphins, manatees and walruses moved from land to water, a series of physical abilities --- limbs adapted for swimming, less dense bones that make them more buoyant and a large store of oxygen relative to their body size - made it possible. Yet these animals made the transition from land to water millions of years apart. In a report that appears online in the journal Nature Genetics, an international consortium of researchers that includes those at Baylor College of Medicine looked at the genomes of these four marine mammals and compared them to their closest land kin. The genomes of the whale and dolphin were compared to that of the cow, the walrus to the dog and the manatee to the elephant. NHGRI helped fund the research.

January 21, 2015: USC neuroscientists lead global ENIGMA consortium to crack brain's genetic codeFrom University of Southern California:In the largest collaborative study of the brain to date, researchers from the Keck School of Medicine of the University of Southern California (USC) led a global consortium of 190 institutions to identify eight common genetic mutations that appear to age the brain an average of three years. The discovery could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions. An international team of roughly 300 scientists known as the Enhancing Neuro Imaging Genetics through Meta Analysis (ENIGMA) Network pooled brain scans and genetic data worldwide to pinpoint genes that enhance or break down key brain regions in people from 33 countries. This is the first high-profile study since the National Institutes of Health (NIH) launched its Big Data to Knowledge (BD2K) centers of excellence in 2014. BD2K involves all institutes at the NIH, including NHGRI.

January 16, 2015: Penn State and Geisinger announce new collaborative gene research project From Penn State University:Marylyn Ritchie, Ph.D., professor of biochemistry and molecular biology and director of the Center for Systems Genomics in the Huck Institutes of the Life Sciences at Penn State University, will lead a collaborative effort between Penn State and Geisinger Research to connect the genome data of 100,000 anonymous patients with their medical histories, in order to identify the genetic and environmental basis of human disease. This new program was developed to harness the data resources being generated through a large-scale DNA-sequencing project at Geisinger in collaboration with Regeneron Pharmaceuticals, where at least 100,000 Geisinger patients will be sequenced over the next five years. Dr. Ritchie is is the lead investigator in coordinating the genomic data in the eMERGE network, funded by the National Human Genome Research Institute (NHGRI).

January 7, 2015: NIH teams with industry to develop treatments for Niemann-Pick Type C diseaseFrom the National Institutes of Health: Researchers from the National Institutes of Health have entered into an agreement with biotechnology company Vtesse, Inc., of Gaithersburg, Maryland, to develop treatments for Niemann-Pick disease type C (NPC) and other lysosomal storage disorders. Lysosomal storage diseases, also known as lipid storage diseases, comprise about 50 rare inherited disorders that usually affect children. NHGRI scientists contributed to the research.

January 6, 2015: UMMS receives $6.1 M to develop model for predicting gene expression in human dendritic cellsFrom University of Massachusetts Medical School: Jeremy Luban, MD, and Manuel Garber, PhD, will be principal investigators on a three-year, $6.1 million grant to develop a model for predicting whether a given gene will be turned on or off under specific conditions. Funding for the grant comes from the recently launched Genomics of Gene Regulation (GGR) program at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. In total, $28 million in new grants aimed at deciphering the language of gene expression were awarded.